Kathmandu, March 29

A patient has been diagnosed with Osler-Weber-Rendu disease — a rare autosomal dominant genetic disorder that affects blood vessels throughout the body — at Civil Service Hospital.

“The disease is rare but there are people suffering from the disease who do not visit hospitals for treatment,” said Dr Rupesh Mishra, clinical geneticist at Civil Service Hospital.

Also known as hereditary hemorrhagic telangiectasia the disease is characterised by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.

Telangiectasias (HHT) are small red dots and are prone to bleeding.  They can be seen on face, lips, chest, tongue, ears, fingertips, whites of the eyes and   gastrointestinal system.

The most common symptom of the disease is spontaneous and recurrent nosebleeds. Small arteriovenous malformations are seen in lips, tongue, face, chest and fingers.

If there are arteriovenous malformations in the gastrointestinal tract then it will lead to gastrointestinal bleeding, which may also cause cancer,” said the doctor.

Population studies from numerous areas in the world have shown that HHT occurs at roughly the same rate in almost all populations: somewhere around one in 5000. In some areas, it is much more common. This has been attributed to a founder effect, in which a population descending from a small number of ancestors has a high rate of a particular genetic trait because one of these ancestors harbored this trait.